Our sentinel paper describing this syndrome has just been published. Here is a link to the paper.
We are now preparing a more extensive description of HELPS for publication.
HELPS syndrome is a condition caused by a blood vessel pinching the nerve rootlets of the Vagus nerve (Xth cranial nerve). It is similar to the well recognized hemifacial spasm syndrome but the nerve involved is the Vagus instead of the Facial nerve. As a result, the symptoms are episodic throat contractions and cough. The throat contractions become stronger and more frequent over the years and can lead to a terrifying inability to breath. Patients may end up intubated in the Emergency Department or with a tracheostomy because of inability to breath during a severe episode. Some but not all of our patients can tell which side of their throat (left or right) contracts during a choking episode. In between these choking episodes, patients feel normal.
Physicians unfamiliar with this condition may misdiagnose HELPS syndrome as a psychiatric conversion disorder, a response to gastric reflux, or laryngeal dystonia. One identifying feature is that the spasms eventually occur while sleeping. Another feature of this condition is that it is associated with coughing episodes. These coughing spells usually begin in response to a tickling sensation at the back of the throat. In response to this tickling sensation, the patient will cough. This coughing tends to get stronger over the years and eventually can be so severe that it causes dizziness (“seeing stars”), vomiting or urinary incontinence. Our patients have described various triggers for this coughing including environmental odors, prolonged or loud talking but it can occur spontaneously without any obvious cause. Eventually the coughing will occur while sleeping.
The treatment of HELPS syndrome begins with the correct diagnosis. We will be publishing our guidelines for the diagnosis of this condition in the near future. Once the correct diagnosis has been made, the throat spasms can be dampened with Botox injections into the muscles of the throat. The spasms will still occur but will be much less severe. These injections typically need to be repeated every three months. This will not stop the coughing because the tickling sensation continues. The definitive cure comes when the pinched nerve is decompressed surgically. This operation is called a microvascular decompression (MVD). Many neurosurgeons will be familiar with the MVD operation for trigeminal neuralgia (Vth cranial nerve), hemifacial spasm (VIIth cranial nerve), or glossopharyngeal neuralgia (IXth cranial nerve). The operation is essentially the same except the nerve being decompressed is the Vagus (Xth cranial nerve).
During the world’s first successful operation to cure this condition, we saw that two of the rootlets forming the patient’s Vagus nerve were severely stretched by the posterior inferior cerebellar artery (see Figure 1 below). After we freed the rootlets from some scar tissue, one of them fell back into the normal position (see Figure 2 below). We then moved the artery slightly to free up the second rootlet (see Figure 3 below). The patient did well with no surgical complications and has not had another episode of HELPS in over 3 years.
The top two of the five rootlets making up the Vagus nerve (cranial nerve X) in this patient were obviously distorted by the posterior inferior cerebellar artery. The glossopharyngeal nerve (cranial nerve IX) was not affected.
After freeing up some scar tissue around the rootlets, one of them fell back into the normal position. We then moved the artery slightly to take the pressure off the other affected rootlet.
At the conclusion of the operation, all the nerve rootlets were safely decompressed.
We are very grateful to our patients for sharing their stories. In the video below, “Patient #2” describes his HELPS syndrome before and 8 months after MVD surgery.
First, we are working to clarify the diagnosis of this condition. It is likely that patients will present with slight variations of symptoms and we want to understand what are the common themes (e.g. throat contractions and cough) and what are the rare associated problems. We must also understand what is the best method of conclusively diagnosing this condition (e.g. the history from the patient, MRI, video laryngoscopy, or diagnostic botox injections).
Second, we are working to educate our colleagues around the world that HELPS exists and can be cured. This will be done with publication of our work in peer reviewed journals and presentation of our work at scientific conferences. Our first paper has been published and is available on line (see above). We have presented our first case to our North American neurosurgical colleagues at the American Society for Stereotactic and Functional Neurosurgery (ASSFN) in June 2016 and presented our first three cases to our European colleagues at the European Society for Stereotactic and Functional Neurosurgery (ESSFN) meeting in September 2016. We will be presenting our first five cases to the World Society for Stereotactic and Functional Neurosurgery (WSSFN) in Berlin this summer.
Although the surgical cure will lie in the hands of neurosurgeons, the diagnosis (and thus access to care) will depend on our ENT and Emergency Medicine colleagues. We will have to educate them as well about HELPS.
Ultimately, we need other centres to be able to recognize and treat this condition.